K50Q (p.Lys50Gln) variant of TECTA (Alpha-tectorin)
K50Q (p.Lys50Gln) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K50Q (p.Lys50Gln) variant details
- p.Lys50Gln
- gnomAD 11-121105914-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.08
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available